ClinVar Miner

Submissions for variant NM_000295.5(SERPINA1):c.654G>A (p.Trp218Ter)

gnomAD frequency: 0.00003  dbSNP: rs1445192595
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666593 SCV000790908 likely pathogenic Alpha-1-antitrypsin deficiency 2017-04-13 criteria provided, single submitter clinical testing

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